Variant report

Variant	esv3413239
Chromosome Location	chr4:21716323-21716779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570929932	chr4:21716340-21716341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183707947	chr4:21716371-21716372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16871712	chr4:21716395-21716396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs201662586	chr4:21716409-21716410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568638377	chr4:21716410-21716411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554618541	chr4:21716411-21716412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201864370	chr4:21716412-21716413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199505663	chr4:21716413-21716414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536180699	chr4:21716416-21716417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375965697	chr4:21716418-21716419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551045888	chr4:21716421-21716422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369159886	chr4:21716423-21716424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529630166	chr4:21716424-21716425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13152122	chr4:21716429-21716430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138680222	chr4:21716431-21716432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186682025	chr4:21716434-21716435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565577563	chr4:21716438-21716439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191489907	chr4:21716439-21716440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184587846	chr4:21716444-21716445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370762580	chr4:21716449-21716450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569294635	chr4:21716453-21716454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375166007	chr4:21716454-21716455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368390200	chr4:21716459-21716460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372352705	chr4:21716464-21716465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376738601	chr4:21716469-21716470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368575481	chr4:21716474-21716475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371844715	chr4:21716479-21716480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs13152318	chr4:21716484-21716485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375057177	chr4:21716489-21716490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368884097	chr4:21716494-21716495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13152338	chr4:21716516-21716517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372982323	chr4:21716524-21716525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374932154	chr4:21716529-21716530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369569622	chr4:21716534-21716535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373007557	chr4:21716539-21716540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377530414	chr4:21716544-21716545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370986972	chr4:21716549-21716550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373858009	chr4:21716554-21716555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376262837	chr4:21716559-21716560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370289469	chr4:21716569-21716570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375400249	chr4:21716574-21716575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367868960	chr4:21716579-21716580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371037882	chr4:21716584-21716585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374181026	chr4:21716589-21716590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568737077	chr4:21716594-21716595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537004052	chr4:21716599-21716600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368385821	chr4:21716634-21716635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372391998	chr4:21716639-21716640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376726989	chr4:21716644-21716645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367834539	chr4:21716649-21716650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:21712400-21717400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr4:21712400-21718400	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links